HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19589524A>G , CM000686.2:g.19589524A>G | GRCh38 |
NC_000024.9:g.21751410A>G , CM000686.1:g.21751410A>G | GRCh37 |
NC_000024.8:g.20210798A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686158.1:n.501A>G | ||
ENST00000686905.1:n.1586A>G | ||
ENST00000693214.1:n.1674A>G | ||
ENST00000445715.6:n.403A>G | ||
ENST00000407724.7:n.750-3A>G | ||
ENST00000445715.5:n.403A>G | ||
ENST00000447202.2:n.2438A>G | ||
ENST00000447520.5:n.403A>G | ||
ENST00000459719.6:n.1674A>G | ||
ENST00000538014.2:n.1693A>G | ||
ENST00000585549.5:n.46A>G | ||
ENST00000587095.1:n.44A>G | ||
ENST00000588613.5:n.112A>G | ||
ENST00000589075.5:n.85A>G | ||
NR_045128.1:n.427A>G | ||
NR_045129.1:n.427A>G |